Annotation Detail

Information
Associated Genes
EPG5
Associated Variants
EPG5 p.Gln1530Ter (p.Q1530*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
EPG5 p.Gln1530Ter (p.Q1530*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 )
Associated Disease
Vici syndrome
Source Database
ClinVar
Description
NM_020964.3(EPG5):c.4588C>T (p.Gln1530Ter) AND Vici syndrome
ClinVar Allele ID
48500
ClinVar RefSeq Alternation Syntax
NM_020964.3:c.4588C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2019-01-17
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000033114
ClinVar Disease
Vici syndrome
Observed Origin Sample
germline
Observed Origin Sample
unknown
Pubmed
3344762
Pubmed
23222957
Drugs